Incidental Mutation 'R6711:Pih1d2'
| ID |
529136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pih1d2
|
| Ensembl Gene |
ENSMUSG00000000167 |
| Gene Name |
PIH1 domain containing 2 |
| Synonyms |
2700059L22Rik |
| MMRRC Submission |
044829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6711 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50528621-50536300 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 50529310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000171]
[ENSMUST00000125606]
[ENSMUST00000131351]
[ENSMUST00000132187]
[ENSMUST00000141366]
[ENSMUST00000145139]
[ENSMUST00000151197]
[ENSMUST00000171462]
[ENSMUST00000147671]
[ENSMUST00000155435]
|
| AlphaFold |
Q8CHR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000171
|
| SMART Domains |
Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
314 |
4.1e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125606
|
| SMART Domains |
Protein: ENSMUSP00000121100
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
140 |
2.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131351
|
| SMART Domains |
Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132187
|
| SMART Domains |
Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
92 |
1.7e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141366
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
35 |
198 |
2.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145139
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151197
|
| SMART Domains |
Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
235 |
1.7e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171462
|
| SMART Domains |
Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAP
|
86 |
163 |
5.2e-26 |
PFAM |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147671
|
| SMART Domains |
Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155435
|
| SMART Domains |
Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155773
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c21 |
A |
G |
13: 4,627,374 (GRCm39) |
D156G |
probably damaging |
Het |
| Ankrd35 |
C |
T |
3: 96,590,784 (GRCm39) |
Q357* |
probably null |
Het |
| Ano2 |
G |
A |
6: 125,752,795 (GRCm39) |
A191T |
probably damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,505,039 (GRCm39) |
T331I |
probably damaging |
Het |
| Ccdc81 |
T |
G |
7: 89,537,006 (GRCm39) |
E214A |
probably damaging |
Het |
| Cdh4 |
A |
G |
2: 179,532,724 (GRCm39) |
T729A |
probably damaging |
Het |
| Ceacam2 |
A |
G |
7: 25,238,295 (GRCm39) |
L43P |
probably benign |
Het |
| Ces2h |
A |
T |
8: 105,744,715 (GRCm39) |
R364S |
probably benign |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
T |
C |
19: 23,955,463 (GRCm39) |
N385S |
probably benign |
Het |
| Epb42 |
T |
A |
2: 120,854,589 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,789,098 (GRCm39) |
V555M |
probably damaging |
Het |
| Ganc |
A |
T |
2: 120,281,320 (GRCm39) |
H723L |
possibly damaging |
Het |
| Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
| Glrb |
A |
G |
3: 80,752,281 (GRCm39) |
I443T |
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 72,993,671 (GRCm39) |
C1165S |
probably damaging |
Homo |
| Hoxd10 |
A |
G |
2: 74,524,507 (GRCm39) |
Y273C |
probably damaging |
Het |
| Iba57 |
T |
C |
11: 59,049,369 (GRCm39) |
T267A |
probably damaging |
Het |
| Impg2 |
C |
A |
16: 56,085,449 (GRCm39) |
P943H |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,048,750 (GRCm39) |
T145A |
probably damaging |
Het |
| Lmntd1 |
T |
C |
6: 145,489,228 (GRCm39) |
Y11C |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,809,820 (GRCm39) |
T497S |
possibly damaging |
Het |
| Man1a |
G |
A |
10: 53,809,588 (GRCm39) |
H406Y |
probably benign |
Het |
| Mme |
A |
T |
3: 63,249,339 (GRCm39) |
K289N |
possibly damaging |
Het |
| Mrps21 |
G |
A |
3: 95,777,895 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,536,824 (GRCm39) |
N33D |
possibly damaging |
Het |
| Ncoa1 |
C |
A |
12: 4,372,904 (GRCm39) |
A166S |
probably benign |
Het |
| Ndrg2 |
A |
T |
14: 52,147,782 (GRCm39) |
F112I |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,113,076 (GRCm39) |
F36C |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,299 (GRCm39) |
Y2893H |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,162 (GRCm39) |
*229Q |
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,478,219 (GRCm39) |
E231D |
possibly damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,001,751 (GRCm39) |
N633D |
probably benign |
Het |
| Rph3al |
C |
A |
11: 75,799,810 (GRCm39) |
G50* |
probably null |
Het |
| Rtcb |
A |
T |
10: 85,774,963 (GRCm39) |
N477K |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,979 (GRCm39) |
F1630S |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,373 (GRCm39) |
S145P |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,848,069 (GRCm39) |
E211G |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,527 (GRCm39) |
D24G |
probably benign |
Het |
| Tlr6 |
C |
A |
5: 65,111,835 (GRCm39) |
M357I |
probably damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,120 (GRCm39) |
Y82C |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,773,545 (GRCm39) |
L245Q |
unknown |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,444 (GRCm39) |
L165P |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,887,395 (GRCm39) |
Y3268C |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,810,066 (GRCm39) |
I218T |
probably benign |
Het |
| Zfp213 |
A |
G |
17: 23,778,485 (GRCm39) |
F209S |
probably benign |
Het |
|
| Other mutations in Pih1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01819:Pih1d2
|
APN |
9 |
50,533,177 (GRCm39) |
missense |
probably benign |
0.09 |
|
FR4449:Pih1d2
|
UTSW |
9 |
50,532,927 (GRCm39) |
frame shift |
probably null |
|
|
R0390:Pih1d2
|
UTSW |
9 |
50,532,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Pih1d2
|
UTSW |
9 |
50,532,403 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1570:Pih1d2
|
UTSW |
9 |
50,532,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1874:Pih1d2
|
UTSW |
9 |
50,532,245 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2207:Pih1d2
|
UTSW |
9 |
50,532,379 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4667:Pih1d2
|
UTSW |
9 |
50,532,252 (GRCm39) |
nonsense |
probably null |
|
|
R5806:Pih1d2
|
UTSW |
9 |
50,529,750 (GRCm39) |
unclassified |
probably benign |
|
|
R5811:Pih1d2
|
UTSW |
9 |
50,532,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Pih1d2
|
UTSW |
9 |
50,536,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Pih1d2
|
UTSW |
9 |
50,532,452 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6416:Pih1d2
|
UTSW |
9 |
50,529,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7052:Pih1d2
|
UTSW |
9 |
50,533,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Pih1d2
|
UTSW |
9 |
50,536,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7661:Pih1d2
|
UTSW |
9 |
50,529,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7770:Pih1d2
|
UTSW |
9 |
50,533,101 (GRCm39) |
missense |
not run |
|
|
R8295:Pih1d2
|
UTSW |
9 |
50,532,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Pih1d2
|
UTSW |
9 |
50,536,232 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9147:Pih1d2
|
UTSW |
9 |
50,532,321 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9401:Pih1d2
|
UTSW |
9 |
50,529,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCTCACATAATGTTCCAGC -3'
(R):5'- TGACTTGGTGCCTTCCAGAC -3'
Sequencing Primer
(F):5'- TATAGCTCTATGTCAGAAGAGGCGC -3'
(R):5'- CAGACCTGGAATTGTGAGGTAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation